Links from Gene
Items: 1 to 20 of 1378
1.
rs1491581891 has merged into rs34775324 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAAAAAAGAAAAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:69430645
(GRCh38)
1:69896328
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0.0001/1
(
ALFA)
A=0.4989/2039
(1000Genomes)
- HGVS:
NC_000001.11:g.69430645_69430647del, NC_000001.11:g.69430646_69430647del, NC_000001.11:g.69430647del, NC_000001.11:g.69430647dup, NC_000001.11:g.69430646_69430647dup, NC_000001.11:g.69430635_69430647A[24]GAAAAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.69896328_69896330del, NC_000001.10:g.69896329_69896330del, NC_000001.10:g.69896330del, NC_000001.10:g.69896330dup, NC_000001.10:g.69896329_69896330dup, NC_000001.10:g.69896318_69896330A[24]GAAAAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAA[1]
2.
rs1491427330 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:69430634
(GRCh38)
1:69896317
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69430633:GA:
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
3.
rs1491069872 has merged into rs34775324 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAAAAAAGAAAAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:69430645
(GRCh38)
1:69896328
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:69430634:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0.0001/1
(
ALFA)
A=0.4989/2039
(1000Genomes)
- HGVS:
NC_000001.11:g.69430645_69430647del, NC_000001.11:g.69430646_69430647del, NC_000001.11:g.69430647del, NC_000001.11:g.69430647dup, NC_000001.11:g.69430646_69430647dup, NC_000001.11:g.69430635_69430647A[24]GAAAAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.69896328_69896330del, NC_000001.10:g.69896329_69896330del, NC_000001.10:g.69896330del, NC_000001.10:g.69896330dup, NC_000001.10:g.69896329_69896330dup, NC_000001.10:g.69896318_69896330A[24]GAAAAAGGAAAAGAAAAAAAAAAAAAAAAAAAAAAA[1]
4.
rs1490594217 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:69432988
(GRCh38)
1:69898671
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69432987:G:C
- Gene:
- LINC01758 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
5.
rs1490528375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:69434166
(GRCh38)
1:69899849
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69434165:T:C
- Gene:
- LINC01758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
6.
rs1490266591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:69434040
(GRCh38)
1:69899723
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69434039:A:G
- Gene:
- LINC01758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489760114 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:69433497
(GRCh38)
1:69899180
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69433496:A:G
- Gene:
- LINC01758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
- HGVS:
8.
rs1489628212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:69434611
(GRCh38)
1:69900294
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69434610:T:C
- Gene:
- LINC01758 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489008166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:69435400
(GRCh38)
1:69901083
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69435399:A:C
- Gene:
- LINC01758 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.000684/2
(KOREAN)
C=0.001132/19
(TOMMO)
- HGVS:
10.
rs1488975758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:69435527
(GRCh38)
1:69901210
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69435526:C:G,NC_000001.11:69435526:C:T
- Gene:
- LINC01758 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000108/2
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000035/1
(TOMMO)
T=0.000446/2
(Estonian)
G=0.000546/1
(Korea1K)
- HGVS:
12.
rs1486211837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:69430240
(GRCh38)
1:69895923
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69430239:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1486130503 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:69432321
(GRCh38)
1:69898004
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69432320:T:C
- Gene:
- LINC01758 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486092180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:69429935
(GRCh38)
1:69895618
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69429934:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
16.
rs1484859019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:69430057
(GRCh38)
1:69895740
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69430056:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1484841128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:69431086
(GRCh38)
1:69896769
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69431085:G:C
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1484243635 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:69430889
(GRCh38)
1:69896572
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69430888:T:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1484213360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:69431061
(GRCh38)
1:69896744
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69431060:T:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1484193585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:69432078
(GRCh38)
1:69897761
(GRCh37)
- Canonical SPDI:
- NC_000001.11:69432077:G:A
- Gene:
- LINC01758 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS: